Associated Papers
Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.
Miao M et al.
Gene, 2024
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.
Moccia A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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